Ch 53 WB

Question 1

A major congenital anomaly is found in _______ of every 100 births, and an additional 10% to 15% of births are complicated by minor birth defect

Answer 1

3

Question 2

An ultrasound-directed biopsy of the placenta or chorionic villa (chorion frondosum) is _______.

Answer 2

CVS

Question 3

A specialized prenatal test that permits direct viewing of the developing embryo using a transcervical endoscope inserted into the extracoelomic cavity during the first trimester of pregnancy is _______.

Answer 3

embryoscopy

Question 4

The technique first used to relieve poly, to predict RH isoimmunizatoion, and to document fetal lung maturity is _______.

Answer 4

aminocentesis

Question 5

Another method in which chromosomes are analyzes is _______.

Answer 5

cordocentesis

Question 6

The amniocentesis tecnhique for multiple gestation is similar to the singleton method, except that _______ fetal sac is entered.

Answer 6

each

Question 7

The major protein in fetal serum that is also produced by the yolk sac in early gestation and later by the fetal liver is _______.

Answer 7

alpha-feta protein

Question 8

AFP is transported into the _______ by fetal urination and reaches maternal circulation or blood through the fetal membranes.

Answer 8

amniotic fluid

Question 9

Common reasons for high AFP levels are _______, such as anencephaly and open spina bifida.

Answer 9

neral tube defects

Question 10

Two common abd wall defects, _______ and _______, produce elevations of AFP.

Answer 10

omphalocele, gastroschisis

Question 11

It is expected that the AFP level in a twin pregnancy will be _______ that of a singleton pregnancy.

Answer 11

twice

Question 12

The quadruple screen was formerly known as the triple test to triple screen; this biochemical screening test combined three serum markers: _______, _______ and _______, plus another maternal serum markers, dimeric inhibin..

Answer 12

AFP, HcG, estroil

Question 13

A normal karyotype consists of _______ chromosomes, _______ pairs of autosomes, and a pair of sex chromosomes.

Answer 13

46, 23

Question 14

An abnormality of the number of chromosomes is _______.

Answer 14

aneuploidy

Question 15

One of the most common aneuplid conditions is _______syndrome, in which an individual has an extra chromosome number 21.

Answer 15

Downs

Question 16

An inherited dominant disorder carriers a _______% chance that each time pregnancy occurs, the fetus will have the condition.

Answer 16

50

Question 17

A recessive disorder is caused by a pair of defective genes, one inherited from each parent. With each pregnancy, the parents have a _______% chance of having a fetus with the disorder.

Answer 17

25

Question 18

X-linked disorders are inherited by _______ from their mothers.

Answer 18

boys

Question 19

Each of the _______ of the female carriers of Xlinked disorders has a 50% chance of being affected, and each of the _______ has a 50% chance of being a carrier.

Answer 19

sons, daughters

Question 20

An abnormal even that arises because of the interaction of one or more genes and environmental factors is a _______ condition.

Answer 20

multifactoral

Question 21

The occurrence of a gene mutation or chromosomal abnormality in a portion of an individuals cells is _______

Answer 21

mocasism

Question 22

An abnormal fluid colection behind the fetal neck has been strongly assocaited with _______.

Answer 22

aneuploidy

Question 23

A nuchal translucency of _______ mm or greater has been used to define an abnormal thickness.

Answer 23

3

Question 24

The translucency should be oriented perpendicular to the ultrasound beam, and the measurement should be taken from the inside of the fetal _______ to inside the _______ membrane.

Answer 24

neck, nuchal

Question 25

A measurement of _______ mm increases the risk of aneuploidy four times, and nuchal translucencies of _______ mm and greater carry and even greater risk.

Answer 25

3, 4

Question 26

List the anomlies associated with Down's Syndrome

Answer 26

``` Absent nasal bones (hypoplastic nose) Brachycephaly Clinodactyly Duodenal atresia Echogenic intracardiac focus Hyperechoic bowel Macroglossia Mild hydrocephalus Nuchal thickening >/= 6mm between 16 and 20 weeks Thickened nuchal translucency Pericardial effusion Pyelectasis Sandal gap Shortened limb VSD’s Widened pelvic angles ```

Question 27

List the anomlies associated with 18

Answer 27

``` Strawberry shaped skull Agenesis of the corpus callosum Choroid plexus cyst Hypoplastic cerebellum Enlarged cisterna magna Micrognathia Small, low-set ears Esophageal atresia Spina bifida Clenched hands, overlapping index finger, fixed wrists Cardiac defects Omphalocele Diaphragmatic hernia Renal anomalies Single umbilical artery Feet abnormalities ```

Question 28

List the anomlies associated with 13

Answer 28

``` Microcephaly Polydactyly Holoprosencephaly Ventriculomegaly Agenesis of the corpus callosum Small, low set ears Facial anomalies(cyclopia, cleft lip, cleft palate) Cardiac defects Omphalocele Renal anomalies Single umbilical artery Clubfeet ```

Question 29

List the anomlies associated with troploidy

Answer 29

``` Holoprosencephaly Dandy-Walker malformation Agenesis of the corpus callosum Hydrocephalus Facial abnormalites (microphtalmia and micrognathia Small, low set ears Cardiac defects Renal anomalies IUGR Omphalocele Single umbilical artery Syndactyly (third and fourth fingers Clubfeet ```

Question 30

A genetic abnormality marked by absence of the X or Y chromosomes is ________.

Answer 30

Turner's

Question 31

The most pathognomic finding for the above disorder is __________, Other physical features incluide cardiac anomlies, which are commonly present, with _______ being the most common.

Answer 31

Cystic hygroma, coartation of aorta

Question 32

Alpha-fetoprotein

Answer 32

protein manufactured by the fetus, which can be studied in amniotic fluid and maternal serum

Question 33

amniocentesis

Answer 33

transabdominal removal of amniotic fluid from the amniotic cavity using ultrasound

Question 34

cystic hygroma

Answer 34

dilation of jugular lymph sacs caused by improper drainage of the lymphatic system into the venous system

Question 35

hypertelorism

Answer 35

Abnormally wide-spaced orbits usually found in conjunction with congenital anomalies and mental retardation

Question 36

hypoplasia

Answer 36

underdevelopment of a tissue, organ or body

Question 37

hypotelorism

Answer 37

abnormally closely spaced orbits; associated with holoprosencephaly, chromosomal and CNS, and cleft palate

Question 38

IUGR

Answer 38

decreased rate of fetal growth, usually fetal weight below the 10th percentile for a given gestational age

Question 39

micrognathia

Answer 39

abnormally small chin; commonly associated with other fetal anomalies

Question 40

omphalocele

Answer 40

anterior abd wall defect in which abd organs are atypically located within the umbilical cord; highly associated with cardiac, CNS, renal, and chromomal anomalies

Question 41

TORCH

Answer 41

TOxoplasmosis Rubella Cytomegalovirus Herpesvirus type 2